A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3344998



Internal ID14845265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:29352828..29352847hg38UCSC Ensembl
Innerchr12:29352824..29352851hg38UCSC Ensembl
Outerchr12:29352805..29352870hg38UCSC Ensembl
chr12:29505761..29505780hg19UCSC Ensembl
Innerchr12:29505757..29505784hg19UCSC Ensembl
Outerchr12:29505738..29505803hg19UCSC Ensembl
chr12:29397028..29397047hg18UCSC Ensembl
Innerchr12:29397051..29397024hg18UCSC Ensembl
Outerchr12:29397005..29397070hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8677854
SamplesNA12878
Known GenesERGIC2
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3344998
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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